Varaico: Literature-Extracted Genetic Variants

Gene:RYR1
Variant:p.G3946S
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RYR1

NM_000540.3:p.G3946S

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.

Yan Z et al.

Nature, 2015

25517095 (PubMed )
Supplement: NIHMS61019-supplement-Supplementary_Table_1.pdf

Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.

Yano M et al.

Nature Clinical Practice. Cardiovascular Medicine, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."